新等位基因A4GALT纯合变异致罕见p血型  

Homozygous variants of the new allele A4GALT result in rare p blood groups

作　　者：何子毅[1] 胡应明[1] 罗广平[2] 揭小梅 贝孟辉[1] 许先国[3] He Ziyi;Hu Yingming;Luo Guangping;Jie Xiaomei;Bei Menghui;Xu Xianguo(Blood Transfusion Laboratory,Dongguan Central Blood Station,Dongguan523011,China;Institute of Blood Transfusion,Guangzhou Blood Center,Guangzhou510410,China;Institute of Blood Transfusion,Zhejiang Blood Center,Hangzhou310052,China)

机构地区：[1]东莞市中心血站输血研究室,东莞523011 [2]广州血液中心输血研究所,广州510410 [3]浙江省血液中心输血研究所,杭州310052

出　　处：《中华检验医学杂志》2024年第11期1345-1348,共4页Chinese Journal of Laboratory Medicine

基　　金：东莞市社会科技发展项目(20231800938632)。

摘　　要：先证者女,33岁,孕妇(孕4产1),前3次均为孕3月左右自然流产,无输血和移植史,第4次孕期临床诊断先兆流产,于2023年6月28日在东莞市中医院妇产科拟行剖宫产,术前备血,进行交叉配血试验时发现该先证者血浆中有无法确定特异性的意外抗体,无法找到合适的供者红细胞。血样本遂送至东莞市中心血站输血研究室,本实验室对该先证者采用血型血清学鉴定其红细胞血型表型证实为罕见的p血型,意外抗体特异性鉴定为抗-PP1Pk,先证者基因测序发现为新等位基因A4GALT*(c.100G>A+c.418428delins)纯合子,推测其引起多肽链p.Val34Ile和p.Gln140Trpfs*73改变,并导致α1,4-半乳糖基转移酶失活。同时在家系成员中发现另一个新等位基因A4GALT*c.100G>A,经预测该变异引起的单独p.Val34Ile改变并不影响蛋白功能和酶活性。The proband was a 33-year-old pregnant woman(G4P1)who suffered spontaneous abortion in the first 3 months of pregnancy without a history of blood transfusion or transplantation.The fourth pregnancy was clinically diagnosed with threatened abortion,and a cesarean section was performed on June 28,2023,at the Obstetrics and Gynecology Department of Dongguan Hospital of Traditional Chinese Medicine.During cross-matching tests,unexpected antibodies were detected in the proband′s plasma,which could not be specifically identified,and no suitable donor red blood cells could be found.The blood samples were sent to the Blood Transfusion Laboratory of Dongguan Blood Center.The laboratory used serology to identify the erythrocyte phenotype of the proband and confirmed the proband as having a rare p blood group.The unexpected antibody was identified as anti-PP1P K,and gene sequencing of the proband revealed that the new allele A4GALT*(c.100G>A+c.418_428delins)was homozygous,which is speculated to cause changes in the polypeptide chains p.Veral34ile and p.GERln140TRPFS*73,and inactivation ofα1,4-galactosyltransferase.At the same time,another new allele A4GALT*c.100G>A was found in family members,and it was predicted that the single change of p.Val34Ile caused by this mutation would not affect protein function or enzyme activity.

关 键 词：P血型系统 抗-PP1Pk 基因测序 变异 

分 类 号：R440[医药卫生—诊断学] R457.1[医药卫生—临床医学]